Effects of MTHFR C677T polymorphism on homocysteine and vitamin D in women with polycystic ovary syndrome

Jinyan Zhao; Xianghong Li; Qing Chen

doi:10.1016/j.gene.2024.148504

Effects of MTHFR C677T polymorphism on homocysteine and vitamin D in women with polycystic ovary syndrome

Gene. 2024 Apr 25:919:148504. doi: 10.1016/j.gene.2024.148504. Online ahead of print.

Authors

Jinyan Zhao¹, Xianghong Li¹, Qing Chen²

Affiliations

¹ Department of Obstetrics and Gynecology, the Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China.
² Department of Obstetrics and Gynecology, the Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China. Electronic address: chenq2y@xjtu.edu.cn.

PMID: 38670392
DOI: 10.1016/j.gene.2024.148504

Abstract

Objectives: To evaluate the correlation between serum vitamin D, homocysteine and the methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism in women with polycystic ovary syndrome (PCOS). Study design We retrospectively compared the serum homocysteine and vitamin D levels and the MTHFR C677T polymorphism in 104 PCOS patients and 104 controls. Parameters related to PCOS were statistically analysed.

Results: Comparative analysis revealed that women with PCOS had significantly greater serum homocysteine levels (P = 0.002) and lower vitamin D concentrations (P = 0.040) than controls. The distribution frequency of the MTHFR C677T genotype did not significantly differ between the PCOS group and the control group. (P > 0.05). In the PCOS group, the serum level of homocysteine in the TT group was significantly greater than that in the CT (P = 0.003) and CC (P = 0.002) groups and the level of vitamin D in the TT group was significantly less than that in the CC (P < 0.001) and CT (P = 0.172) groups. The results were similar when the PCOS and control groups were divided according to whether they had insulin resistance. Vitamin D levels were significantly negatively correlated with homocysteine levels in all PCOS patients (r = -0.281, P = 0.004), similarly, vitamin D levels were negatively correlated with homocysteine levels in the CC, CT and TT of PCOS patients. According to multivariate analysis, vitamin D concentration was an independent risk factor for hyperhomocysteinaemia (adjusted OR 1.372, 95 % CI: 1.100-1.712).

Conclusions: No significant differences were found in the distributions of MTHFR C677T genotypes between the PCOS and control groups but these genotypes affected the patients' serum homocysteine and vitamin D concentrations. Women with the TT genotype have significantly lower vitamin D levels and higher homocysteine levels than women with the CC and CT genotypes. However, because of the limitations of this investigation, large-sample, high-quality prospective studies are needed to further verify these results in the future.

Keywords: Gene polymorphism; Homocysteine; MTHFR; Polycystic ovary syndrome; Vitamin D.